Lk_Disease

Controlled vocabulary for disease.

Columns
Name Type Description Foreign Key
name varchar(250) Name or identifier
disease_ontology_id varchar(50)
description varchar(1000) Free text to expand upon details
link varchar(2000) Link to URL
human_phenotype_id varchar(50) Link to Human Phenotype Ontology
Indexes
Name Column Description
PRIMARY name BTREE
Tables that Reference this Table
Name Column Table Reference Column Reference
immune_exposure disease_preferred lk_disease name
study_2_condition_or_disease condition_preferred lk_disease name
Values
name disease_ontology_id description link human_phenotype_id
acquired immunodeficiency syndrome DOID:635 A Human immunodeficiency virus infectious disease that results_in reduction in the numbers of CD4-bearing helper T cells below 200 per microliter of blood or 14% of all lymphocytes thereby rendering the subject highly vulnerable to life-threatening infections and cancers, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2, which are transmitted_by sexual contact, transmitted_by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted_by congenital method, and transmitted_by contaminated needles. Opportunistic infections are common in people with AIDS. http://purl.obolibrary.org/obo/DOID_635
acute disseminated encephalomyelitis DOID:639 An encephalomyelitis characterized by inflammation located in brain and located in spinal cord that damages myelin. It usually occurs after viral infection, but also following vaccination, bacterial or parasitic infection. http://purl.obolibrary.org/obo/DOID_639
Acute Respiratory Distress Syndrome C3353 Progressive and life-threatening pulmonary distress in the absence of an underlying pulmonary condition, usually following major trauma or surgery. Cases of neonatal respiratory distress syndrome are not included in this definition. http://purl.obolibrary.org/obo/NCIT_C3353
Addison's disease DOID:13774 An adrenal cortical hypofunction that is characterized by insufficient steroid hormone production by the adrenal glands. http://purl.obolibrary.org/obo/DOID_13774 HP:0008207
Aging NCIT:C16269 The process of change in the structure and function of an organism that occurs with the passage of time. http://purl.obolibrary.org/obo/NCIT_C16269
alcohol dependence DOID:0050741 A substance dependence that is characterized by tolerance, withdrawal symptoms, increasing use, persistent desire to decrease consumption, time spent obtaining or recovering from alcohol caused by a physical and psychological dependence on alcohol. (UMLS CUI:C0001973) http://purl.obolibrary.org/obo/DOID_0050741
alcohol use disorder DOID:1574 A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences. http://purl.obolibrary.org/obo/DOID_1574
allergic hypersensitivity disease DOID:1205 An immune system disease that is an exaggerated immune response to allergens, such as insect venom, dust mites, pollen, pet dander, drugs or some foods. http://purl.obolibrary.org/obo/DOID_1205 HP:0012393
allergic rhinitis DOID:4481 A rhinitis that is an allergic inflammation and irritation of the nasal airways involving sneezing, runny nose, nasal congestion, itching and tearing of the eyes caused by exposure to an allergen such as pollen, dust, mold, animal dander and droppings of cockroaches or house dust mites. http://purl.obolibrary.org/obo/DOID_4481 HP:0003193
alopecia areata DOID:986 An autoimmune disease resulting in the loss of hair on the scalp and elsewhere on the body initially causing bald spots. http://purl.obolibrary.org/obo/DOID_986 HP:0002232
Alzheimer's disease DOID:10652 A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid. http://purl.obolibrary.org/obo/DOID_10652 HP:0002511
anemia DOID:2355 A hematopoietic system disease that is characterized by a decrease in the normal number of red blood cells. http://purl.obolibrary.org/obo/DOID_2355 HP:0001903
Angina NCIT:C51221 Paroxysms of chest pain due to reduced oxygen to the heart. (UMLS CUI:C0002962) http://purl.obolibrary.org/obo/NCIT_C51221
anthrax disease DOID:7427 A primary bacterial infectious disease that results_in infection located_in skin, located_in lung lymph nodes or located_in gastrointestinal tract, has_material_basis_in Bacillus anthracis, transmitted_by contact with infected animals or animal products, transmitted_by airborne spores or transmitted_by ingestion of undercooked meat from infected animals and has_symptom skin ulcer, has_symptom nausea, has_symptom poor appetite, has_symptom bloody diarrhea, has_symptom fever or has_symptom shortness of breath. http://purl.obolibrary.org/obo/DOID_7427
antiphospholipid syndrome DOID:2988 An autoimmune disease that is characterized by recurrent venous or arterial thrombosis and/or fetal losses associated with characteristic elevated levels of antibodies directed against membrane anionic phospholipids (anticardiolipin). http://purl.obolibrary.org/obo/DOID_2988
antisynthetase syndrome DOID:0080744 An autoimmune disease that is characterized by myositis, arthralgia, Raynaud phenomenon, mechanic hands, interstitial lung disease, and serum autoantibodies to aminoacyl transfer RNA synthetases. http://purl.obolibrary.org/obo/DOID_0080744
anxiety disorder DOID:2030 A cognitive disorder that involves an excessive, irrational dread of everyday situations. http://purl.obolibrary.org/obo/DOID_2030
arrhythmia SYMP:0000287 Arrhythmia is a cardiovascular system symptom consisting of an alteration in rhythm of the heartbeat either in time or force. http://purl.obolibrary.org/obo/SYMP_0000287
aspiration pneumonia DOID:0050152 A bacterial pneumonia which is an acute pulmonary inflammatory response that develops after the inhalation of colonized oropharyngeal material containing bacteria. It is seen in individuals with dysphagia and gastric dysmotility. The disease has_symptom tachypnea and has_symptom cough. (UMLS CUI:C0032290) http://purl.obolibrary.org/obo/DOID_0050152
asthma DOID:2841 A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing. http://purl.obolibrary.org/obo/DOID_2841 HP:0002099
atopic dermatitis DOID:3310 An allergic contact dermatitis that is a chronically relapsing inflammatory allergic response located_in the skin that causes itching and flaking. http://purl.obolibrary.org/obo/DOID_3310 HP:0001047
atrial fibrillation DOID:0060224 A heart conduction disease that is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular and has symptoms palpitations, weakness, fatigue, lightheadedness, dizziness, confusion, shortness of breath and chest pain. (UMLS CUI:C0004238) http://purl.obolibrary.org/obo/DOID_0060224
autoimmune cardiomyopathy DOID:0040095 An autoimmune disease of cardiovascular system that is characterized by deterioration of the function of the heart muscle. http://purl.obolibrary.org/obo/DOID_0040095
autoimmune cholangitis DOID:0080742 An autoimmune hepatitis that is characterized by primary biliary cirrhosis clinical, biochemical, and histologic characteristics with antinuclear antibody positive sera. http://purl.obolibrary.org/obo/DOID_0080742
autoimmune disease DOID:417 An immune system disease that is an overactive immune response of the body against substances and tissues normally present in the body resulting from an abnormal functioning of the immune system that results in the production of antibodies or T cell directed against the host tissues. http://purl.obolibrary.org/obo/DOID_417
autoimmune disease of endocrine system DOID:0060005 An autoimmune disease that is the abnormal functioning of the immune system resulting in production of antibodies or T cells against cells and/or tissues in the endocrine system. http://purl.obolibrary.org/obo/DOID_0060005
autoimmune disease of musculoskeletal system DOID:0060032 An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the musculoskeletal system. http://purl.obolibrary.org/obo/DOID_0060032
autoimmune glomerulonephritis DOID:0040094 An autoimmune disease of urogenital tract that is located_in the renal glomerulus. http://purl.obolibrary.org/obo/DOID_0040094
autoimmune hemolytic anemia DOID:718 An autoimmune disease of blood that is characterized by deficient red blood cells caused by auto-antibodies. http://purl.obolibrary.org/obo/DOID_718 HP:0001890
autoimmune hepatitis DOID:2048 An autoimmune disease of gastrointestinal tract that results_in inflammation located_in liver caused by the body's immune system attacking the liver cells. http://purl.obolibrary.org/obo/DOID_2048
autoimmune peripheral neuropathy DOID:0040087 An autoimmune disease of peripheral nervous system that results in peripheral neuropathy. http://purl.obolibrary.org/obo/DOID_0040087
autoimmune thrombocytopenic purpura DOID:8924 A primary thrombocytopenia that involves relatively few platelets in blood as a result of autoantibodies. http://purl.obolibrary.org/obo/DOID_8924 HP:0001973
avian influenza DOID:4492 An influenza that results in infection located in respiratory tract of humans, domestic and wild birds, has_material_basis_in Influenza A virus, which is transmitted by contact with infected poultry. Five strains of avian influenza A viruses (H5N1, H7N3, H7N2, H7N7 and H9N2) are known to cause human infections. The infection has_symptom fever, has_symptom cough, has_symptom sore throat, has_symptom muscle aches, has_symptom nausea, has_symptom diarrhea, has_symptom vomiting, has_symptom neurologic changes, has_symptom pneumonia, and has_symptom acute respiratory distress. http://purl.obolibrary.org/obo/DOID_4492
Bariatric Surgery NCIT:C84399 Surgery performed in morbidly obese patients to help promote weight loss. The procedure aims at the reduction of the stomach size and it is usually achieved either with the implantation of a medical device or the removal of part of the stomach. http://purl.obolibrary.org/obo/NCIT_C84399
Bilateral pleural effusion (disorder) SNOMEDCT:425802001 Bilateral pleural effusion (disorder) (UMLS CUI:C0747635) http://purl.bioontology.org/ontology/SNOMEDCT/425802001
biliary atresia DOID:13608 A cholestasis characterized by blockage of the ducts that carry bile from the liver to the gallbladder. http://purl.obolibrary.org/obo/DOID_13608 HP:0005912
blood coagulation disease DOID:1247 A hematopoietic system disease that is characterized by abnormal blood clotting or bleeding. http://purl.obolibrary.org/obo/DOID_1247 HP:0001928
Blood Transfusion NCIT:C15192 The injection of whole blood or a blood component directly into the bloodstream. http://purl.obolibrary.org/obo/NCIT_C15192
bone development disease DOID:0080006 A bone disease that results_in abnormal growth and development located_in bone or located_in cartilage. http://purl.obolibrary.org/obo/DOID_0080006
bone disease DOID:0080001 A connective tissue disease that affects the structure or development of bone or causes an impairment of normal bone function. http://purl.obolibrary.org/obo/DOID_0080001
brain glioblastoma multiforme DOID:3073 A brain glioma that has_material_basis_in abnormally proliferating cells derives_from glial cells, has_symptom seizure, headaches, nausea and vomiting, memory loss, changes to personality, mood or concentration; and localized neurological problems. http://purl.obolibrary.org/obo/DOID_3073
brain glioma DOID:0060108 A brain cancer that has_material_basis_in glial cells. http://purl.obolibrary.org/obo/DOID_0060108
breast cancer DOID:1612 A thoracic cancer that originates in the mammary gland. http://purl.obolibrary.org/obo/DOID_1612 HP:0003002
bronchiectasis DOID:9563 A bronchial disease that is a chronic inflammatory condition of one or more bronchi or bronchioles marked by dilatation and loss of elasticity of the walls resulting from damage to the airway wall leading to the formation of small sacs on the bronchial wall and impairment of cilia mobility in the lung. Inflammation of the bronchial wall increases mucus secretion which serves as a breeding ground for bacteria. Bronchiectasis is caused by repeated respiratory infections, immune deficiency disorders, hereditary disorders (cystic fibrosis or primary ciliary dyskinesia), mechanical factors (inhaled object or a lung tumor) or inhaling toxic substances. (UMLS CUI:C0006267) http://purl.obolibrary.org/obo/DOID_9563
bronchiolitis DOID:2942 A lung disease that is an inflammation of the bronchioles, the smallest air passages of the lungs. It is caused by viruses and bacteria. The disease has_symptom cough, has_symptom wheezing, has_symptom shortness of breath, has_symptom fever, has_symptom nasal flaring in infants and has_symptom bluish skin due to lack of oxygen. http://purl.obolibrary.org/obo/DOID_2942 HP:0011950
bronchitis DOID:6132 A bronchial disease that is an inflammation of the bronchial tubes. It is caused by bacteria and viruses. The disease has_symptom cough with mucus, has_symptom shortness of breath, has_symptom low fever and has_symptom chest tightness. http://purl.obolibrary.org/obo/DOID_6132 HP:0012387
Bronchopulmonary Dysplasia NCIT:C90599 Chronic lung disease requiring treatment with oxygen for at least 28 days and with a spectrum of severity from mild to severe, that predominantly affects premature infants. While the radiologic pattern is typical in the closer to term patient, the pattern in the small preterm infant is very non-discrete and variable. http://purl.obolibrary.org/obo/NCIT_C90599
bullous skin disease DOID:8502 A dermatitis that is characterized by blisters filled with a watery fluid, located_in skin. The disease is associated with the amount of gluten ingested. http://purl.obolibrary.org/obo/DOID_8502
cancer DOID:162 A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis. http://purl.obolibrary.org/obo/DOID_162 HP:0002664
cardiac arrest DOID:0060319 A congestive heart failure characterized by a sudden stop in effective blood circulation due to the failure of the heart to contract effectively or at all. http://purl.obolibrary.org/obo/DOID_0060319 HP:0001695
cardiomyopathy DOID:0050700 A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle. http://purl.obolibrary.org/obo/DOID_0050700 HP:0001638
cardiovascular system disease DOID:1287 A disease of anatomical entity which occurs in the blood, heart, blood vessels or the lymphatic system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells or lymph to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis. http://purl.obolibrary.org/obo/DOID_1287 HP:0001626
celiac disease DOID:10608 An autoimmune disease of gastrointestinal tract that is caused by a reaction located_in small intestine to gliadin, a prolamin (gluten protein) found in wheat, and similar proteins found in the crops of the tribe Triticeae. The disease is associated with HLA-DQ gene. It has_symptom abdominal pain, has_symptom constipation, has_symptom diarrhea, has_symptom nausea and vomiting, and has_symptom loss of appetite. http://purl.obolibrary.org/obo/DOID_10608 HP:0002608
Cephalohematoma NCIT:C50484 A subperiosteal hemorrhage limited to the surface of one cranial bone, a usually benign condition seen in the newborn as a result of bone trauma. http://purl.obolibrary.org/obo/NCIT_C50484
cerebral palsy DOID:1969 A brain disease that is caused by damage to the motor control centers of the developing brain during pregnancy, during childbirth or after birth, which affects muscle movement and balance. http://purl.obolibrary.org/obo/DOID_1969 HP:0100021
cerebrovascular disease DOID:6713 An vascular disease that is characterized by dysfunction of the blood vessels supplying the brain. http://purl.obolibrary.org/obo/DOID_6713
chickenpox DOID:8659 A viral infectious disease that results_in infection located_in skin, has_material_basis_in Human herpesvirus 3, which is transmitted_by direct contact with secretions from the rash, or transmitted_by droplet spread of respiratory secretions. The infection has_symptom anorexia, has_symptom myalgia, has_symptom nausea, has_symptom fever, has_symptom headache, has_symptom sore throat, and has_symptom blisters. http://purl.obolibrary.org/obo/DOID_8659
chikungunya DOID:0050012 A viral infectious disease that results_in infection located_in joint, has_material_basis_in Chikungunya virus, which is transmitted_by Aedes mosquito bite. The infection has_symptom fever, has_symptom arthralgia, and has_symptom maculopapular rash. http://purl.obolibrary.org/obo/DOID_0050012
childhood type dermatomyositis DOID:14203 childhood type dermatomyositis http://purl.obolibrary.org/obo/DOID_14203
chlamydia DOID:11263 A commensal bacterial infectious disease that is caused by Chlamydia trachomatis. https://disease-ontology.org/?id=DOID:11263 HP:6000731
choledochal cyst DOID:899 choledochal cyst http://purl.obolibrary.org/obo/DOID_899 HP:0100890
cholera DOID:1498 A primary bacterial infectious disease that is described as an acute, diarrheal illness caused by infection of the intestine with the bacterium Vibrio cholerae, which is characterized by profuse watery diarrhea, vomiting, leg cramps, circulatory collapse and shock. http://purl.obolibrary.org/obo/DOID_1498
chorioamnionitis DOID:0050697 A placenta disease that is an inflammation of the fetal membranes (amnion and chorion) due to a bacterial infection. http://purl.obolibrary.org/obo/DOID_0050697
chromosomal disease DOID:0080014 A genetic disease that has_material_basis_in extra, missing, or re-arranged chromosomes. http://purl.obolibrary.org/obo/DOID_0080014
chronic disease course OGMS:0000064 A disease course that (a) does not terminate in a return to normal homeostasis and (b) would, absent intervention, fall within abnormal homeostatic range. http://purl.obolibrary.org/obo/OGMS_0000064
Chronic Fatigue Syndrome NCIT_C3037 A syndrome of unknown etiology. Chronic fatigue syndrome (CFS) is a clinical diagnosis characterized by an unexplained persistent or relapsing chronic fatigue that is of at least six months' duration, is not the result of ongoing exertion, is not substantially alleviated by rest, and results in substantial reduction of previous levels of occupational, educational, social, or personal activities. Common concurrent symptoms of at least six months duration include impairment of memory or concentration, diffuse pain, sore throat, tender lymph nodes, headaches of a new type, pattern, or severity, and nonrestorative sleep. The etiology of CFS may be viral or immunologic. Neurasthenia and fibromyalgia may represent related disorders. Also known as myalgic encephalomyelitis. http://purl.obolibrary.org/obo/NCIT_C3037
chronic kidney disease DOID:784 A kidney failure that is characterized by the gradual loss of kidney function. (UMLS CUI:C1561643) http://purl.obolibrary.org/obo/DOID_784
Chronic Liver Disease NCIT:C113609 Hepatic necrosis, inflammation, or scarring due to any cause that persists for more than 6 months. Manifestations may include signs and symptoms of cholestasis, portal hypertension, and/or abnormal liver function tests. (UMLS CUI:C0341439) http://purl.obolibrary.org/obo/NCIT_C113609
chronic obstructive pulmonary disease DOID:3083 An obstructive lung disease that is characterized by irreversible airflow obstruction due to chronic bronchitis, emphysema, and/or small airways disease. http://purl.obolibrary.org/obo/DOID_3083 HP:0006510
chronic plaque psoriasis N/A Chronic plaque psoriasis is the most common presentation of psoriasis. It presents as small to large, well-demarcated, red, scaly and thickened areas of skin. It most likely to affect elbows, knees, and lower back but may arise on any part of the body. https://dermnetnz.org/topics/chronic-plaque-psoriasis/ HP:0003765
Chronic Sinusitis NCIT:C35151 Inflammation of the paranasal sinuses that typically lasts beyond eight weeks. It is caused by infections, allergies, and the presence of sinus polyps or deviated septum. Signs and symptoms include headache, nasal discharge, swelling in the face, dizziness, and breathing difficulties. (UMLS CUI:C0149516) http://purl.obolibrary.org/obo/NCIT_C35151
chronic spontaneous urticaria DOID:0080749 A chronic urticaria that is characterized by urticaria independent of any exogenous stimulus. http://purl.obolibrary.org/obo/DOID_0080749
cirrhosis DOID:5082 liver cirrhosis http://purl.obolibrary.org/obo/DOID_5082
clinically isolated syndrome N/A Clinically isolated syndrome (CIS) is one of the MS disease courses. CIS refers to a first episode of neurologic symptoms that lasts at least 24 hours and is caused by inflammation or demyelination (loss of the myelin that covers the nerve cells) in the central nervous system (CNS). https://www.nationalmssociety.org/Symptoms-Diagnosis/Clinically-Isolated-Syndrome-(CIS)
Clostridium difficile colitis DOID:0060185 A colitis characterized by an overgrowth of Clostridium difficile bacteria. http://purl.obolibrary.org/obo/DOID_0060185
colitis DOID:0060180 An inflammatory bowel disease that involves inflammation located_in colon. http://purl.obolibrary.org/obo/DOID_0060180 HP:0002583
colorectal cancer DOID:9256 A large intestine cancer that is located_in the colon and/or located_in the rectum. http://purl.obolibrary.org/obo/DOID_9256 HP:0100834
common variable immunodeficiency DOID:12177 An agammaglobulinemia that is results in insufficient production of antibodies needed to respond to exposure of pathogens and is characterized by low Ig levels with phenotypically normal B cells that can proliferate but do not develop into Ig-producing cells. http://purl.obolibrary.org/obo/DOID_12177
congenital adrenal insufficiency DOID:0050546 An adrenal gland disease that is characterized by cortisol deficiency, hypoaldosteronism and excessive or insufficient sex hormones, has_material_basis_in the mutation in the gene for 21-hydroxylase, 11beta-hydroxylase, 3beta-hydroxysteroid, 17alpha-hydroxylase or 20,22-desmolase. http://purl.obolibrary.org/obo/DOID_0050546
congenital heart disease DOID:1682 congenital heart disease http://purl.obolibrary.org/obo/DOID_1682 HP:0001627
congenital syphilis DOID:9856 A syphilis that results_in a multisystem infection in the fetus via the placenta. http://purl.obolibrary.org/obo/DOID_9856
congestive heart failure DOID:6000 A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body. http://purl.obolibrary.org/obo/DOID_6000 HP:0001635
conjunctivitis DOID:6195 A conjunctival disease characterized by an inflammation of the conjunctiva, the outermost layer of the eye and the inner surface of the eyelids. http://purl.obolibrary.org/obo/DOID_6195 HP:0000509
connective tissue disease DOID:65 A musculoskeletal system disease that affects tissues such as skin, tendons, and cartilage. http://purl.obolibrary.org/obo/DOID_65
coronary artery disease DOID:3393 An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles. http://purl.obolibrary.org/obo/DOID_3393 HP:0001677
COVID-19 DOID:0080600 A Coronavirus infection that is characterized by fever, cough and shortness of breath and that has_material_basis_in SARS-CoV-2. http://purl.obolibrary.org/obo/DOID_0080600
COVID-19-Associated Acute Respiratory Distress Syndrome C171551 Acute respiratory distress syndrome caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) http://purl.obolibrary.org/obo/NCIT_C171551
cranial nerve disease DOID:5656 A neuropathy that is located_in one of the twelve cranial nerves. http://purl.obolibrary.org/obo/DOID_5656 HP:0006824
critical COVID-19 DOID:0081012 http://purl.obolibrary.org/obo/DOID_0081012;https://www.who.int/publications/i/item/WHO-2019-nCoV-clinical-2021-1
Crohn's disease DOID:8778 An intestinal disease that involves inflammation located_in intestine. http://purl.obolibrary.org/obo/DOID_8778 HP:0100280
cutaneous lupus erythematosus DOID:0050169 A lupus erythematosus that causes skin lesions on parts of the body that are exposed to sunlight. http://purl.obolibrary.org/obo/DOID_0050169
cystic fibrosis DOID:1485 A syndrome that is characterized by the buildup of thick, sticky mucus that can damage many organs. http://purl.obolibrary.org/obo/DOID_1485
cystic kidney disease DOID:2975 Polycystic kidney disease (PKD) is an inherited disorder in which clusters of cysts develop primarily within your kidneys, causing your kidneys to enlarge and lose function over time. Cysts are noncancerous round sacs containing fluid. The cysts vary in size, and they can grow very large. http://purl.obolibrary.org/obo/DOID_2975 HP:0000107
cystinosis DOID:1064 A lysosomal storage disease characterized by the abnormal accumulation of cystine in the lysosomes. It follows an autosomal recessive inheritance pattern and that has_material_basis_in mutations in the CTNS gene, located on chromosome 17. http://purl.obolibrary.org/obo/DOID_1064
Cytogenetically Normal Acute Myeloid Leukemia NCIT:C122687 Acute myeloid leukemia not associated with cytogenetic abnormalities. http://purl.obolibrary.org/obo/NCIT_C122687 HP:0004808
Cytomegaloviral Infection NCIT:C53649 A herpesvirus infection caused by Cytomegalovirus. Healthy individuals generally do not produce symptoms. However, the infection may be life-threatening in affected immunocompromised patients. The virus may cause retinitis, esophagitis, gastritis, and colitis. Morphologically, it is characterized by the presence of intranuclear inclusion bodies. http://purl.obolibrary.org/obo/NCIT_C53649
dementia DOID:1307 A cognitive disorder resulting from a loss of brain function affecting memory, thinking, language, judgement and behavior. http://purl.obolibrary.org/obo/DOID_1307
Dementia with psychosis UMLS CUI:C0543884 Dementia with psychosis (UMLS CUI:C0543884)
dengue disease DOID:12205 A viral infectious disease that results in infection, has_material_basis_in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted by Aedes mosquito bite. The infection has symptom fever, has symptom severe headache, has symptom severe pain behind the eyes, has symptom joint pain, has symptom muscle and bone pain, has symptom rash, and has symptom mild bleeding. http://purl.obolibrary.org/obo/DOID_12205
dengue hemorrhagic fever DOID:12206 A dengue disease that occurs when a person experiences a second infection with a heterologous Dengue virus serotype, which is transmitted_by Aedes mosquito bite. The infection has_symptom hemorrhagic lesions of the skin, has_symptom thrombocytopenia, has_symptom reduction in the fluid part of the blood, and has_symptom high fever. http://purl.obolibrary.org/obo/DOID_12206
Dependence on peritoneal dialysis due to end stage renal disease SNOMEDCT:428937001 Dependence on peritoneal dialysis due to end stage renal disease (UMLS CUI:C1997877) http://purl.bioontology.org/ontology/SNOMEDCT/428937001
dermatomyositis DOID:10223 A myositis that results_in inflammation located_in muscle or located_in skin where a skin rash is often seen prior to the onset of muscle weakness. The disease may result from either a viral infection or an autoimmune reaction. http://purl.obolibrary.org/obo/DOID_10223
dermatophytosis DOID:8913 A cutaneous mycosis that results_in fungal infection located_in scalp, located_in glabrous skin, or located_in nail, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes, which have the ability to utilize keratin as a nutrient source. http://purl.obolibrary.org/obo/DOID_8913
developmental disorder of mental health DOID:0060037 A disease of mental health that occur during a child's developmental period between birth and age 18 resulting in retarding of the child's psychological or physical development. http://purl.obolibrary.org/obo/DOID_0060037
diabetes mellitus DOID:9351 A glucose metabolism disease characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both. http://purl.obolibrary.org/obo/DOID_9351 HP:0000819
diphtheria DOID:11405 A primary bacterial infectious disease that is characterized by sore throat, low fever, and an adherent membrane (a pseudomembrane) on the tonsils, pharynx, and/or nasal cavity. A milder form of diphtheria can be restricted to the skin. It is caused by Corynebacterium diphtheriae, an aerobic Gram-positive bacterium. Diphtheria toxin spreads through the bloodstream and can lead to potentially life-threatening complications that affect other organs of the body, such as the heart and kidneys. http://purl.obolibrary.org/obo/DOID_11405
disease DOID:4 A disease is a disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism. http://purl.obolibrary.org/obo/DOID_4
disease by infectious agent DOID:0050117 A disease that is the consequence of the presence of pathogenic microbial agents, including pathogenic viruses, pathogenic bacteria, fungi, protozoa, multicellular parasites, and aberrant proteins known as prions. http://purl.obolibrary.org/obo/DOID_0050117
disease of metabolism DOID:0014667 A disease that involving errors in metabolic processes of building or degradation of molecules. http://purl.obolibrary.org/obo/DOID_0014667
diverticulitis DOID:7475 An intestinal disease characterized by the formation and inflammation of diverticula within the bowel wall. (UMLS CUI:C0012813) http://purl.obolibrary.org/obo/DOID_7475
Dyspnea with Mild Physical Activity NCIT_C191546 Dyspnea experienced during minimal exertion. https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C191546
Dyspnea with Moderate Physical Activity NCIT_C191547 Dyspnea experienced during moderate exertion. https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C191547
Ebola hemorrhagic fever DOID:4325 A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Zaire ebolavirus, has_material_basis_in Sudan ebolavirus, has_material_basis_in Cote d'Ivoire ebolavirus, or has_material_basis_in Bundibugyo ebolavirus, which are transmitted_by contact with the body fluids of an infected animal or person, transmitted by contaminated fomites, or transmitted by infected medical equipment. The infection has_symptom fever, has_symptom headache, has_symptom joint pain, has_symptom muscle aches, has_symptom sore throat, has_symptom weakness, has_symptom diarrhea, has_symptom vomiting, has_symptom stomach pain, has_symptom rash, has_symptom red eyes, has_symptom hiccups, and has_symptom internal and external bleeding. http://purl.obolibrary.org/obo/DOID_4325
EBV Infection NCIT:C38759 An infection that is caused by Epstein-Barr virus. http://purl.obolibrary.org/obo/NCIT_C38759
EBV-Related Post-Transplant Lymphoproliferative Disorder NCIT:C27696 A lymphoproliferative disorder that develops following organ transplantation and is associated with Epstein-Barr virus infection. http://purl.obolibrary.org/obo/NCIT_C27696
eczema herpeticum DOID:9123 A herpes simplex that results_in infection located_in skin, effected by preexisting dermatosis, has_material_basis_in Human herpesvirus 1 or Human herpesvirus 2. The infection has_symptom watery blisters, has_symptom fever, and has_symptom swelling of the lymph nodes. http://purl.obolibrary.org/obo/DOID_9123
eczema vaccinatum N/A Eczema vaccinatum: A common concern with smallpox vaccination involving the implantation of the vaccinia virus from the vaccination into the skin of a person with eczema (atopic dermatitis), sometimes with a fatal outcome. Disrupted skin permits viral implantation. Once the virus is implanted, it spreads from cell to cell producing extensive lesions. The skin lesions appear identical to a primary smallpox vaccination. Confluent lesions often cover the entire face, the crook of the elbow in the antecubital fossa, and behind the knee in the popliteal fossa. Viremia (viral spread through the bloodstream) may also occur allowing for the spread of virus to other parts of the body, including skin that is not affected by eczema. Bacterial and fungal invas https://www.medicinenet.com/script/main/art.asp?articlekey=21872
egg allergy DOID:4377 A food allergy that is an allergy or hypersensitivity to dietary substances from the yolk or whites of eggs, causing an overreaction of the immune system which may lead to severe physical symptoms. http://purl.obolibrary.org/obo/DOID_4377
encephalitis DOID:9588 A brain disease that is characterized as an acute inflammation of the brain with flu-like symptoms. http://purl.obolibrary.org/obo/DOID_9588 HP:0002383
end stage renal disease DOID:783 A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease. http://purl.obolibrary.org/obo/DOID_783
endocarditis DOID:10314 A endocardium disease characterized by inflammation of the endocardium of the heart chambers and valves. http://purl.obolibrary.org/obo/DOID_10314 HP:0100584
eosinophilic esophagitis DOID:13922 An esophagitis characterized by inflammation involving eosinophils located_in esophagus. http://purl.obolibrary.org/obo/DOID_13922
epidermolysis bullosa DOID:2730 A vesiculobullous skin disease that is characterized by formation of blisters with only minor skin trauma, which can cause widespread wounds, dehydration, electrolyte abnormalities, and severe infection, frequently develops_from mutations in connective tissue elements, including genes encoding keratin, collagen, and laminin. http://purl.obolibrary.org/obo/DOID_2730
epilepsy DOID:1826 A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions. http://purl.obolibrary.org/obo/DOID_1826 HP:0001250
Escherichia Coli Infection NCIT:C34594 Infection with the organism Escherichia Coli. http://purl.obolibrary.org/obo/NCIT_C34594 HP:0002740
esophageal atresia DOID:10485 esophageal atresia http://purl.obolibrary.org/obo/DOID_10485 HP:0002032
esophageal atresia/tracheoesophageal fistula DOID:0080171 A gastrointestinal system disease that is characterized by abnormal development of the esophagus and trachea where the upper esophagus does not connect (atresia) to the lower esophagus and stomach and may also include tracheoesophageal fistula where the esophagus and the trachea are abnormally connected which allows fluids from the esophagus to get into the airways and interfere with breathing. http://purl.obolibrary.org/obo/DOID_0080171
Failure to Thrive NCIT:C107587 A clinical finding indicating less than normal growth in an infant or child, or a state of global decline in an adult. (UMLS CUI:C0015544) http://purl.obolibrary.org/obo/NCIT_C107587
Family Medical History NCIT:C17726 A record of a patient's background regarding health and disease events of blood relatives. A patient's family medical history may be important in diagnosing existing conditions. http://purl.obolibrary.org/obo/NCIT_C17726
fibromyalgia DOID:631 fibromyalgia http://purl.obolibrary.org/obo/DOID_631
focal segmental glomerulosclerosis DOID:1312 Focal segmental glomerulosclerosis (FSGS) is a disease in which scar tissue develops on the parts of the kidneys that filter waste from the blood (glomeruli). FSGS can be caused by a variety of conditions. http://purl.obolibrary.org/obo/DOID_1312 HP:0000097
food allergy DOID:3044 A hypersensitivity reaction type I disease that is an abnormal response to a food, triggered by the body's immune system. http://purl.obolibrary.org/obo/DOID_3044
gastroesophageal reflux disease DOID:8534 gastroesophageal reflux disease http://purl.obolibrary.org/obo/DOID_8534 HP:0002020
glioblastoma DOID:3068 A malignant astrocytoma characterized by the presence of small areas of necrotizing tissue that is surrounded by anaplastic cells as well as the presence of hyperplastic blood vessels, and that has_material_basis_in abnormally proliferating cells derives_from multiple cell types including astrocytes and oligondroctyes. http://purl.obolibrary.org/obo/DOID_3068 HP:0012174
Goodpasture syndrome DOID:9808 An autoimmune disease that is characterized by antibody attack of the basement membrane in lungs and kidneys, leading to bleeding from the lungs and kidney failure. http://purl.obolibrary.org/obo/DOID_9808
granulomatosis with polyangiitis DOID:12132 An autoimmune disease that is characterized by necrotizing granulomatous inflammation of the upper and lower respiratory tract, glomerulonephritis, vasculitis, and the presence of antineutrophil cytoplasmatic autoantibodies (ANCAs) in patient sera, and is located_in lung, located_in kidney, located_in skin resulting from an autoimmune attack by antineutrophil cytoplasmic antibodies against small and medium-size blood vessels. http://purl.obolibrary.org/obo/DOID_12132
Graves' disease DOID:12361 An autoimmune disease of endocrine system that involves production of excessive amount of thyroid hormones, located_in thyroid gland. http://purl.obolibrary.org/obo/DOID_12361 HP:0100647
Guillain-Barre syndrome DOID:12842 An autoimmune disease of peripheral nervous system that causes body's immune system to attack part of the peripheral nervous system. http://purl.obolibrary.org/obo/DOID_12842
haemophilus meningitis DOID:0080179 A bacterial meningitis that has_material_basis_in Haemophilus influenzae infection. http://purl.obolibrary.org/obo/DOID_0080179
healthy NCIT:C115935 Having no significant health-related issues. http://purl.obolibrary.org/obo/NCIT_C115935
Heart Failure NCIT:C50577 Inability of the heart to pump blood at an adequate rate to meet tissue metabolic requirements. Clinical symptoms of heart failure include: unusual dyspnea on light exertion, recurrent dyspnea occurring in the supine position, fluid retention or rales, jugular venous distension, pulmonary edema on physical exam, or pulmonary edema on chest x-ray presumed to be cardiac dysfunction. (UMLS CUI:C0018801) http://purl.obolibrary.org/obo/NCIT_C50577
Heart Transplantation NCIT:C15246 A surgical procedure in which a damaged heart is removed and replaced by another heart from a suitable donor. http://purl.obolibrary.org/obo/NCIT_C15246
Helicobacter Pylori Infection NCIT:C39293 A bacterial infection of the stomach, caused by Helicobacter pylori. It is associated with the development of peptic ulcer and mucosa-associated lymphoid tissue lymphoma. http://purl.obolibrary.org/obo/NCIT_C39293 HP:0005202
hematologic cancer DOID:2531 An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes. http://purl.obolibrary.org/obo/DOID_2531 HP:0004377
Hematopoietic Cell Transplant Recipient CL507993 An individual receiving a hematopoietic cell transplant https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncim/CL507993
hematopoietic system disease DOID:74 A disease of anatomical entity that has_material_basis_in hematopoietic cells. http://purl.obolibrary.org/obo/DOID_74 HP:0001871
hemiplegia DOID:10969 A central nervous system disease that is characterized by the complete paralysis of half of the body. http://purl.obolibrary.org/obo/DOID_10969 HP:0002301
hemoglobinopathy DOID:2860 hemoglobinopathy http://purl.obolibrary.org/obo/DOID_2860
hemolytic-uremic syndrome DOID:12554 A kidney disease that is characterized by hemolytic anemia, thrombocytopenia, and renal failure caused by platelet thrombi in the microcirculation of the kidney and other organs. http://purl.obolibrary.org/obo/DOID_12554 HP:0005575
hepatitis DOID:2237 (UMLS CUI:C0267797) http://purl.obolibrary.org/obo/DOID_2237
hepatitis A DOID:12549 A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis A virus, which is transmitted_by ingestion of contaminated food or water, or transmitted_by direct contact with an infected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice. http://purl.obolibrary.org/obo/DOID_12549
hepatitis B DOID:2043 A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis B virus, which is transmitted_by sexual contact, transmitted_by blood transfusions, and transmitted_by fomites like needles or syringes. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice. http://purl.obolibrary.org/obo/DOID_2043
hepatitis C DOID:1883 A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis C virus, which is transmitted_by blood from an infected person enters the body of an uninfected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice. http://purl.obolibrary.org/obo/DOID_1883
herpes zoster DOID:8536 A viral infectious disease that results_in infection located_in nerve fiber, has_material_basis_in Human herpesvirus 3, which reactivates after appearing as chickenpox in childhood. The virus is transmitted_by direct contact with the rash, which can develop into chickenpox in newly-infected individuals. The infection has_symptom rash which is followed by blisters, has_symptom headache, has_symptom fever, has_symptom malaise, has_symptom itching, has_symptom burning pain, and has_symptom paresthesia. http://purl.obolibrary.org/obo/DOID_8536
human cytomegalovirus infection DOID:0080827 A viral infectious disease that has_material_basis_in Human betaherpesvirus 5. http://purl.obolibrary.org/obo/DOID_0080827
human immunodeficiency virus infectious disease DOID:526 A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2, which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has symptom diarrhea, has symptom fatigue, has symptom fever, has symptom vaginal yeast infection, has symptom headache, has symptom mouth sores, has symptom muscle aches, has symptom sore throat, and has symptom swollen lymph glands. http://purl.obolibrary.org/obo/DOID_526
hydronephrosis DOID:11111 hydronephrosis http://purl.obolibrary.org/obo/DOID_11111 HP:0000126
hypertension DOID:10763 An artery disease characterized by chronic elevated blood pressure in the arteries. http://purl.obolibrary.org/obo/DOID_10763 HP:0000822
Hypertension not adequately controlled UMLS CUI:C0857354 Hypertension not adequately controlled (UMLS CUI:C0857354)
hypoglycemia DOID:9993 A glucose metabolism disease that is characterized by abnormally low levels of blood glucose. http://purl.obolibrary.org/obo/DOID_9993 HP:0001943
Hyponatremia NCIT:C37976 Lower than normal levels of sodium in the circulating blood. (UMLS CUI:C0020625) http://purl.obolibrary.org/obo/NCIT_C37976
hypothyroidism DOID:1459 A thyroid gland disease which involves an underproduction of thyroid hormone. http://purl.obolibrary.org/obo/DOID_1459 HP:0000821
hysterectomy history OBI:0002398 A gynecologic surgery history in which a woman has had a hysterectomy. http://purl.obolibrary.org/obo/OBI_0002398
ichthyosis DOID:1697 A skin disease characterized by drying and scaling of skin with the accumulation of thick scales and cracks that may be painful or bleed. http://purl.obolibrary.org/obo/DOID_1697 HP:0008064
idiopathic pulmonary fibrosis DOID:0050156 A pulmonary fibrosis that is characterized by scarring of the lung. http://purl.obolibrary.org/obo/DOID_0050156
Immunocompromised NCIT:C14139 A loss of any arm of immune functions, resulting in potential or actual increase in infections. This state may be reached secondary to specific genetic lesions, syndromes with unidentified or polygenic causes, acquired deficits from other disease states, or as result of therapy for other diseases or conditions. (UMLS CUI:C2186379) http://purl.obolibrary.org/obo/NCIT_C14139
Immunologic Tolerance NCIT:C17712 An innate tolerance that prevents the body from attacking native proteins and tissue. http://purl.obolibrary.org/obo/NCIT_C17712
Immunosuppressive Disorder C178942 Immunosuppressive Disorder A disorder in which immune function is suppressed. http://purl.obolibrary.org/obo/NCIT_C178942
inflammatory bowel disease DOID:0050589 An intestinal disease characterized by inflammation located in all parts of digestive tract. http://purl.obolibrary.org/obo/DOID_0050589
Inflammatory Disorder C93210 An infectious or non infectious disorder characterized by signs and symptoms derived from focal or extensive tissue infiltration by acute (e.g., polymorphonuclear) or chronic (e.g., lymphocytic-plasmacytic) inflammatory cells. Representative examples of infectious disorders include viral infections, bacterial infections, and parasitic infections. Representative examples of non-infectious inflammatory disorders include inflammatory bowel disease and inflammatory polyps http://purl.obolibrary.org/obo/NCIT_C93210
influenza DOID:8469 A viral infectious disease that results in infection, located in respiratory tract, has_material_basis_in Influenzavirus A, has_material_basis_in Influenzavirus B, or has_material_basis_in Influenzavirus C, which are transmitted_by droplet spread of oronasal secretions during coughing, sneezing, or talking from an infected person. It is a highly contagious disease that affects birds and mammals and has_symptom chills, has_symptom fever, has_symptom sore throat, has_symptom runny nose, has_symptom muscle pains, has_symptom severe headache, has_symptom cough, and has_symptom weakness. http://purl.obolibrary.org/obo/DOID_8469
interstitial lung disease DOID:3082 A lung disease that is characterized by inflammation and altered lung interstitium compromising pulmonary function and often has_symptom shortness of breath, dyspnea, and/or cough. http://purl.obolibrary.org/obo/DOID_3082 HP:0006530
interstitial nephritis DOID:1063 Interstitial nephritis is a kidney disorder. The kidneys filter waste and extra fluid from the body. When you have interstitial nephritis, the spaces between tubules (small tubes) inside the kidney become inflamed. This reduces the kidneys' ability to filter properly. http://purl.obolibrary.org/obo/DOID_1063 HP:0001970
intestinal infectious disease DOID:100 An intestinal disease that involves intestinal infection that has_material_basis_in viruses, bacteria, fungi and parasites. http://purl.obolibrary.org/obo/DOID_100
Irritable bowel syndrome with diarrhea SNOMEDCT:197125005 Irritable bowel syndrome with diarrhea (UMLS CUI:C0348898) http://purl.bioontology.org/ontology/SNOMEDCT/197125005
juvenile rheumatoid arthritis DOID:676 A rheumatoid arthritis that involves an autoimmune disease onset in children under 16 which attacks the healthy cells and tissue of located_in joint. http://purl.obolibrary.org/obo/DOID_676
keratoconjunctivitis sicca DOID:12895 Dryness of the eye related to deficiency of the tear film components (aqueous, mucin, or lipid), lid surface abnormalities, or epithelial abnormalities. Keratoconjunctivitis sicca often results in a scratchy or sandy sensation (foreign body sensation) in the eyes, and may also be associated with itching, inability to produce tears, photosensitivity, redness, pain, and difficulty in moving the eyelids. http://purl.obolibrary.org/obo/DOID_12895 HP:0001097
kidney cortex necrosis DOID:2973 A kidney cortex disease that is characterized by death of the tissue in the outer part of the kidney that results from blockage of the small arteries that supply blood to the cortex and that causes acute kidney injury. http://purl.obolibrary.org/obo/DOID_2973
kidney disease DOID:557 A urinary system disease that is located in the kidney. http://purl.obolibrary.org/obo/DOID_557
kidney failure DOID:1074 A kidney disease characterized by the failure of the kidneys to adequately filter waste products from the blood. http://purl.obolibrary.org/obo/DOID_1074 HP:0000083
Kidney Transplantation NCIT:C15265 The transfer of a healthy kidney from a donor to a patient for the purpose of replacing one of the failing kidneys of the patient. http://purl.obolibrary.org/obo/NCIT_C15265
Lambert-Eaton myasthenic syndrome DOID:0050214 A neuromuscular junction disease that is characterized by an abnormality of acetylcholine (ACh) release at the neuromuscular junction which results from an autoimmune attack against voltage-gated calcium channels (VGCC) on the presynaptic motor nerve terminal. http://purl.obolibrary.org/obo/DOID_0050214
laryngomalacia DOID:0080833 A laryngeal disease that is characterized by inward collapse of flaccid supraglottic structures during inspiration. The most common symptom is noisy breathing (stridor) that is often worse when the infant is on his/her back or crying. http://purl.obolibrary.org/obo/DOID_0080833
leukemia DOID:1240 A cancer that affects the blood or bone marrow characterized by an abnormal proliferation of blood cells. http://purl.obolibrary.org/obo/DOID_1240 HP:0001909
lichen planus DOID:9201 A lichen disease that is located_in skin, located_in tongue or located_in oral mucosa, which presents itself in the form of papules, lesions or rashes. http://purl.obolibrary.org/obo/DOID_9201
Listeria meningitis DOID:11572 A bacterial meningitis that has_material_basis_in Listeria monocytogenes infection. http://purl.obolibrary.org/obo/DOID_11572
liver cancer DOID:3571 A hepatobiliary system cancer that is located_in the liver. http://purl.obolibrary.org/obo/DOID_3571 HP:0002896
liver disease DOID:409 liver disease http://purl.obolibrary.org/obo/DOID_409 HP:0001392
Liver Transplantation NCIT:C15271 The transfer of a healthy liver allograft from a donor to a patient. http://purl.obolibrary.org/obo/NCIT_C15271
localized scleroderma DOID:8472 localized scleroderma http://purl.obolibrary.org/obo/DOID_8472 HP:0100324
lung adenocarcinoma DOID:3910 A lung non-small cell carcinoma that derives_from epithelial cells of glandular origin. http://purl.obolibrary.org/obo/DOID_3910 HP:0030078
lung cancer DOID:1324 A respiratory system cancer that is located_in the lung. http://purl.obolibrary.org/obo/DOID_1324
lung disease DOID:850 A lower respiratory tract disease in which the function of the lungs is adversely affected by narrowing or blockage of the airways resulting in poor air flow, a loss of elasticity in the lungs that produces a decrease in the total volume of air that the lungs are able to hold, and clotting, scarring, or inflammation of the blood vessels that affect the ability of the lungs to take up oxygen and to release carbon dioxide. http://purl.obolibrary.org/obo/DOID_850 HP:0002088
Lung Transplantation NCIT:C15274 The surgical transfer of one or both lungs from one individual to another. http://purl.obolibrary.org/obo/NCIT_C15274
lupus erythematosus DOID:8857 An autoimmune disease that is characterized by a constellation of findings that include elevated antibodies to nuclear antigens, antiphospholipids, low complement levels, ulcers, non-scarring alopecia, renal or neurologic damage, and low white blood cell and platelet counts, has_symptom rashes, fatigue, arthritis, hair loss, seizures, and symptoms related to affected organs. (UMLS CUI:C0409974) http://purl.obolibrary.org/obo/DOID_8857
lupus nephritis DOID:0080162 A glomerulonephritis that is characterized by inflammation of the kidneys resulting from systemic lupus erythematosus. http://purl.obolibrary.org/obo/DOID_0080162
Lyme disease DOID:11729 A primary bacterial infectious disease that results_in infection, has_material_basis_in Borrelia burgdorferi, which is transmitted_by blacklegged tick (Ixodes scapularis) or transmitted_by western blacklegged tick (Ixodes pacificus). The infection has_symptom fever, has_symptom headache, has_symptom fatigue, and has_symptom skin rash called erythema migrans. If left untreated, infection can spread to joints, the heart, and the nervous system. http://purl.obolibrary.org/obo/DOID_11729
lymphocytic choriomeningitis DOID:12155 A viral infectious disease that results in infection located in brain, or located in meninges, or located in brain and meninges, has_material_basis_in Lymphocytic choriomeningitis virus, which is transmitted by common house mouse, Mus musculus. The infection has symptom fever, has symptom lack of appetite, has symptom headache, has symptom muscle aches, has symptom malaise, has symptom nausea, and has symptom vomiting. http://purl.obolibrary.org/obo/DOID_12155
lymphoma DOID:0060058 A hematologic cancer that affects lymphocytes that reside in the lymphatic system and in blood-forming organs. http://purl.obolibrary.org/obo/DOID_0060058 HP:0002665
malaria DOID:12365 A parasitic protozoa infectious disease characterized as a vector-borne infectious disease caused by the presence of protozoan parasites of the genus Plasmodium in the red blood cells, transmitted from an infected to an uninfected individual by the bite of anopheline mosquitoes, and characterized by periodic attacks of chills and fever that coincide with mass destruction of blood cells and the release of toxic substances by the parasite at the end of each reproductive cycle. http://purl.obolibrary.org/obo/DOID_12365
Malignant Gastric Neoplasm NCIT:C9331 A primary or metastatic malignant neoplasm involving the stomach. (UMLS CUI:C0024623) http://purl.obolibrary.org/obo/NCIT_C9331
Malignant Lung Neoplasm NCIT:C7377 A primary or metastatic malignant neoplasm involving the lung. (UMLS CUI:C0242379) http://purl.obolibrary.org/obo/NCIT_C7377
measles DOID:8622 A viral infectious disease that results_in infection located_in skin, has_material_basis_in Measles virus, which is transmitted_by contact with oronasal secretions, or semen of an infected person. The infection has_symptom fever, has_symptom cough, has_symptom coryza, has_symptom conjunctivitis, and has_symptom maculopapular, erythematous rash. http://purl.obolibrary.org/obo/DOID_8622
meningitis DOID:9471 A central nervous system disease that is characterized by an inflammation of the pia-arachnoid meninges. It can be caused by growth of bacteria, fungi, or parasites within the subarachnoid space or by the growth of bacteria or viruses within the meningeal or ependymal cells. http://purl.obolibrary.org/obo/DOID_9471 HP:0001287
meningococcal meningitis DOID:0080176 A bacterial meningitis that has_material_basis_in Neisseria meningitidis infection. http://purl.obolibrary.org/obo/DOID_0080176
meningoencephalitis DOID:10554 A central nervous system disease that involves encephalitis which occurs along with meningitis. http://purl.obolibrary.org/obo/DOID_10554
mental depression DOID:1596 mental depression http://purl.obolibrary.org/obo/DOID_1596
MERS-CoV SNOMEDCT:697932005 Middle East respiratory syndrome coronavirus http://purl.bioontology.org/ontology/SNOMEDCT/697932005
Metabolic Syndrome NCIT:C84442 A combination of medical conditions that when present, increase the risk of heart attack, stroke, and diabetes mellitus. It includes the following medical conditions: increased blood pressure, central obesity, dyslipidemia, impaired glucose tolerance, and insulin resistance. http://purl.obolibrary.org/obo/NCIT_C84442
milk allergy DOID:4376 A food allergy that results in adverse immune reaction to one or more of the proteins in cow's milk and/or the milk of other animals, which are normally harmless to the non-allergic individual. http://purl.obolibrary.org/obo/DOID_4376
miscarriage SYMP:0000198 Miscarriage is a reproductive system symptom characterized by the spontaneous expulsion of a human fetus before it is viable and especially between the 12th and 28th weeks of gestation. http://purl.obolibrary.org/obo/SYMP_0000198
mitral valve insufficiency DOID:11502 (UMLS CUI:C0026266) http://purl.obolibrary.org/obo/DOID_11502
mixed connective tissue disease DOID:3492 A collagen disease that is considered an overlap of three diseases, systemic lupus erythematosus, scleroderma, and polymyositis with very high titers of circulating antinuclear antibody to a ribonucleoprotein antigen. http://purl.obolibrary.org/obo/DOID_3492
molluscum contagiosum DOID:8867 A viral infectious disease that results_in infection located_in skin, has_material_basis_in Molluscum contagiosum virus, which is transmitted_by contact with the skin, and transmitted_by fomites. The infection has_symptom lesions which are flesh-colored with a pit in the center. http://purl.obolibrary.org/obo/DOID_8867
multiple myeloma DOID:9538 A myeloid neoplasm that is located_in the plasma cells in bone marrow. (UMLS CUI:C0026764) http://purl.obolibrary.org/obo/DOID_9538
Multiple Pulmonary Nodules NCIT:C122408 Multiple, small, round or oval, benign or malignant growths in the lung(s), which can be due to infectious, inflammatory, or neoplastic processes. (UMLS CUI:C0748164) http://purl.obolibrary.org/obo/NCIT_C122408
multiple sclerosis DOID:2377 A demyelinating disease that involves damage to the fatty myelin sheaths around the axons of the brain and spinal cord resulting in demyelination and scarring. http://purl.obolibrary.org/obo/DOID_2377
mumps DOID:10264 A viral infectious disease that results in inflammation located in salivary gland, has_material_basis_in Mumps rubulavirus, which is transmitted by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted by contaminated fomites. The infection has symptom fever, has symptom headache, has symptom muscle aches, has symptom tiredness, has symptom loss of appetite, has symptom swollen and tender salivary glands under the ears or jaw on one or both sides of the face. http://purl.obolibrary.org/obo/DOID_10264
muscle invasive bladder cancer N/A Muscle invasive bladder cancer (MIBC) is a cancer that spreads into the detrusor muscle of the bladder. The detrusor muscle is the thick muscle deep in the bladder wall. This cancer is more likely to spread to other parts of the body. About 1 out of 4 people who get bladder cancer in the United States have the muscle invasive kind. https://www.urologyhealth.org/urologic-conditions/muscle-invasive-bladder-cancer HP:0009725
muscular dystrophy DOID:9884 A myopathy is characterized by progressive skeletal muscle weakness degeneration. http://purl.obolibrary.org/obo/DOID_9884 HP:0003560
musculoskeletal system disease DOID:17 A disease of anatomical entity that occurs in the muscular and/or skeletal system. http://purl.obolibrary.org/obo/DOID_17
myasthenia gravis DOID:437 An autoimmune disease of the nervous system that has_material_basis_in antibodies to acetylcholine receptors at the neuromuscular junction, has_symptom ptosis, has_symptom diplopia, has_symptom dysphagia, has_symptom dysarthria, has_symptom muscle weakness and has_symptom shortness of breath. http://purl.obolibrary.org/obo/DOID_437
myocardial infarction DOID:5844 A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia. http://purl.obolibrary.org/obo/DOID_5844 HP:0001658
myocarditis DOID:820 An extrinsic cardiomyopathy that is characterized as an inflammation of the heart muscle. http://purl.obolibrary.org/obo/DOID_820 HP:0012819
narcolepsy DOID:8986 A sleep disorder that involves an excessive urge to sleep at inappropriate times, such as while at work. http://purl.obolibrary.org/obo/DOID_8986 HP:0030050
neonatal candidiasis DOID:9577 A candidiasis that involves fungal infection in neonates caused by Candida species. Low birthweight and age, prolonged intravascular catheterization and the use of antibiotic drugs are the principle predisposing conditions for systemic candidiasis in neonates. http://purl.obolibrary.org/obo/DOID_9577
Neonatal Hypoxic Ischemic Encephalopathy NCIT:C119751 Injury to the central nervous system in the newborn period that occurs when there is insufficient delivery of oxygen to all or part of the brain. http://purl.obolibrary.org/obo/NCIT_C119751
neoplastic, metastatic PATO:0002098 A disposition inhering in a tumour by virtue of the bearer's disposition to spread and invade distant tissues. http://purl.obolibrary.org/obo/PATO_0002098
nephrolithiasis DOID:585 A kidney disease characterized by the formation of stoney concentrations in the kidneys. http://purl.obolibrary.org/obo/DOID_585
Nephrostomy tube (physical object) SNOMEDCT:286628000 Nephrostomy tube (physical object) (UMLS CUI:C0184149) http://purl.bioontology.org/ontology/SNOMEDCT/286628000
nephrotic syndrome DOID:1184 A nephrosis characterized by marked increase in glomerular protein permeability resulting in marked elevation of urine protein levels, hypoalbuminemia, hyperlipidemia, and hypercoagulability. http://purl.obolibrary.org/obo/DOID_1184 HP:0000100
nervous system disease DOID:863 A disease of anatomical entity that is located_in the central nervous system or located_in the peripheral nervous system. http://purl.obolibrary.org/obo/DOID_863
neurofibromatosis 1 DOID:0111253 A neurofibromatosis classically characterized by cafe-au-lait spots, Lisch nodules in the eye, and fibromatous tumors of the skin or in some cases by a high load of spinal tumors that has_material_basis_in heterozygous mutation in NF1 on 17q11.2. http://purl.obolibrary.org/obo/DOID_0111253
Neurological diseases or conditions CUI_C2359473 No definition yet. Semantic Types:Disease or Syndrome
neuromuscular disease DOID:440 A neuropathy that affect the nerves that control the voluntary muscles. (UMLS CUI:C0027868) http://purl.obolibrary.org/obo/DOID_440
neuromyelitis optica DOID:8869 A central nervous system disease characterized by inflammation of the optic nerve (optic neuritis) and inflammation of the spinal cord (myelitis). http://purl.obolibrary.org/obo/DOID_8869
Newcastle disease DOID:2929 A viral infectious disease that results_in infection in birds and humans, has_material_basis_in Newcastle disease virus, which is transmitted_by contact with feces and urine of an infected bird, or transmitted_by fomites. The infection has_symptom conjunctivitis, has_symptom headache, and has_symptom lacrimation in humans, and has_symptom gasping, has_symptom coughing, has_symptom twisting of head and neck, has_symptom circling, has_symptom complete paralysis, has_symptom watery diarrhea, and has_symptom reduced egg production in birds. http://purl.obolibrary.org/obo/DOID_2929
non-severe COVID-19 DOID:0081014 http://purl.obolibrary.org/obo/DOID_0081014;https://www.who.int/publications/i/item/WHO-2019-nCoV-clinical-2021-1
Not Applicable NCIT_C48660 Determination of a value is not relevant in the current context http://purl.obolibrary.org/obo/NCIT_C48660
Not Specified NCIT_C38046 Not stated explicitly or in detail http://purl.obolibrary.org/obo/NCIT_C38046
nutritional deficiency disease DOID:5113 A nutrition disease that is characterized by deficiency of a nutritional element, such as a vitamin, mineral, carbohydrate, protein, fat, or general energy content. http://purl.obolibrary.org/obo/DOID_5113
obesity DOID:9970 An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness. http://purl.obolibrary.org/obo/DOID_9970 HP:0001513
optic nerve glioma DOID:4992 optic nerve glioma http://purl.obolibrary.org/obo/DOID_4992 HP:0009734
optic neuritis DOID:1210 An optic nerve disease that results_in inflammation located_in optic nerve which may cause a complete or partial loss of vision. http://purl.obolibrary.org/obo/DOID_1210 HP:0100653
osteoarthritis DOID:8398 An arthritis that has_material_basis_in worn out cartilage located_in joint. http://purl.obolibrary.org/obo/DOID_8398 HP:0002758
Pancreas Transplantation NCIT:C15293 The surgical transfer of a pancreas from one individual to another. http://purl.obolibrary.org/obo/NCIT_C15293
pancreatic cancer DOID:1793 An endocrine gland cancer located_in the pancreas. (UMLS CUI:C0235974) http://purl.obolibrary.org/obo/DOID_1793
Pancreatic Islet Transplantation NCIT:C15352 The surgical transfer of pancreatic islet cells from one individual to another. http://purl.obolibrary.org/obo/NCIT_C15352
panniculitis DOID:1526 A skin disease that is characterized by inflammation of subcutaneous adipose tissue. http://purl.obolibrary.org/obo/DOID_1526 HP:0012490
paraplegia DOID:607 paraplegia http://purl.obolibrary.org/obo/DOID_607 HP:0010550
Parkinson's disease DOID:14330 A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions. http://purl.obolibrary.org/obo/DOID_14330
Partial Small Intestine Resection NCIT:C51512 Surgical removal of part of the small intestine. (UMLS CUI:C0192616) http://purl.obolibrary.org/obo/NCIT_C51512
peanut allergy DOID:4378 A legume allergy that is an allergy or hypersensitivity to dietary substances from peanuts causing an overreaction of the immune system which in a small percentage of people may lead to severe physical symptoms. http://purl.obolibrary.org/obo/DOID_4378
Pediatric acute-onset neuropsychiatric syndrome C000631768 PANS pediatric acute-onset neuropsychiatric syndrome http://purl.bioontology.org/ontology/MESH/C000631768 C000631768
pemphigus vulgaris DOID:0060851 A pemphigus characterized by autosomal dominant blisters and erosions on the skin and mucous membranes erosions cause by autoantibodies to intercellular cement substance. http://purl.obolibrary.org/obo/DOID_0060851
peptic ulcer disease DOID:750 peptic ulcer disease http://purl.obolibrary.org/obo/DOID_750 HP:0004398
Perennial Allergic Rhinitis NCIT:C92189 Allergic rhinitis caused by indoor allergens and lasting year round. http://purl.obolibrary.org/obo/NCIT_C92189 HP:0003193
perinatal necrotizing enterocolitis DOID:8677 perinatal necrotizing enterocolitis http://purl.obolibrary.org/obo/DOID_8677
peripheral vascular disease DOID:341 A vascular disease that is characterized by obstruction of larger arteries not within the coronary, aortic arch vasculature, or brain. http://purl.obolibrary.org/obo/DOID_341
Peritoneal Dialysis NCIT:C15297 A form of dialysis that uses the peritoneum as a membrane across which the infused diasylate exchanges nutrients for waste products that are removed when the fluid is exchanged. (UMLS CUI:C0031139) http://purl.obolibrary.org/obo/NCIT_C15297
pernicious anemia DOID:13381 A nutritional deficiency disease that is characterized by a decrease in red blood cells due to malabsorption of vitamin B12, has_symptom fatigue, pallor, shortness of breath, glossitis, ataxia, and/or paresthesia, has_material_basis_in atrophic gastritis, autoimmune disorder affecting the production or function of intrinsic factor, and/or genetic factors. http://purl.obolibrary.org/obo/DOID_13381
pertussis DOID:1116 A commensal bacterial infectious disease that results_in inflammation located_in respiratory tract, has_material_basis_in Bordetella pertussis, or has_material_basis_in Bordetella parapertussis, which produce toxins that paralyze the cilia of the respiratory epithelial cells. The infection is characterized by a prolonged, high-pitched, deeply indrawn breath (whoop). http://purl.obolibrary.org/obo/DOID_1116
pervasive developmental disorder DOID:0060040 A developmental disorder of mental health that refers to a group of five disorders characterized by impairments in socialization and communication, as well as restricted interests and repetitive behaviors. http://purl.obolibrary.org/obo/DOID_0060040
pharyngitis DOID:2275 An upper respiratory tract disease involving inflammation of the throat or pharynx resulting from bacterial, viral, fungal infections or irritants like pollutants or chemical substances and smoking. The infection is often referred to as sore throat. The symptoms include pain during swallowing, enlarged tonsils coated with a white discharge, runny nose, cough and slight fever. http://purl.obolibrary.org/obo/DOID_2275
physical disorder DOID:0080015 A disease that has_material_basis_in a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment. http://purl.obolibrary.org/obo/DOID_0080015
pituitary gland disease DOID:53 An endocrine system disease that is located_in the pituitary gland. http://purl.obolibrary.org/obo/DOID_53
placenta disease DOID:780 A uterine disease that is located_in the placenta. http://purl.obolibrary.org/obo/DOID_780
plague DOID:3482 A primary bacterial infectious disease that results_in infection, located_in lymph node, located_in vasculature or located_in lungs, has_material_basis_in Yersinia pestis, which is transmitted_by oriental rat flea (Xenopsylla cheopis) infected by feeding on rodents and other mammals, transmitted_by air, transmitted_by direct contact or transmitted_by ingestion of contaminated undercooked food. http://purl.obolibrary.org/obo/DOID_3482
Plasmodium falciparum malaria DOID:14067 A malaria described as a severe form of the disease caused by a parasite Plasmodium falciparum, which is marked by irrregular recurrence of paroxysms and prolonged or continuous fever. http://purl.obolibrary.org/obo/DOID_14067
Plasmodium vivax malaria DOID:12978 A malaria that is caused by the protozoan parasite Plasmodium vivax, which induces paroxysms at 48-hour intervals. http://purl.obolibrary.org/obo/DOID_12978
Pleural effusions, chronic UMLS CUI:C0747636 Pleural effusions, chronic (UMLS CUI:C0747636)
pneumonia DOID:552 A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). http://purl.obolibrary.org/obo/DOID_552
polymyalgia rheumatica DOID:853 A collagen disease that is characterized by pain, stiffness, and tenderness of the proximal muscle groups including the shoulder, pelvic girdle and the neck. http://purl.obolibrary.org/obo/DOID_853
polymyositis DOID:0080745 A myositis that is characterized by muscle weakness affecting both sides of your body. http://purl.obolibrary.org/obo/DOID_0080745
portal vein thrombosis DOID:11695 A hepatic vascular disease that is characterized by a blood clot that forms within the hepatic portal vein. (UMLS CUI:C0155773) http://purl.obolibrary.org/obo/DOID_11695
Post-Acute Sequelae of COVID-19 NCIT_C179263 A constellation of signs and symptoms that can persist for weeks or months after acute infection with SARS-CoV-2, or appear weeks after infection. This condition may be characterized by fatigue, shortness of breath, difficulty focusing or concentrating ("brain fog"), sleep disorders, fevers, gastrointestinal symptoms, anxiety, and depression. aka Long-COVID-19. ACC/AHA Definition: Symptoms that significantly impair quality of life, which started during or after probable or confirmed acute COVID-19 and have persisted 4 wk to 3 mo after the initial diagnosis of COVID-19 https://uts.nlm.nih.gov/uts/umls/vocabulary/NCI/C179263
Post-Transplant Lymphoproliferative Disorder NCIT:C4727 Post-transplant lymphoproliferative disorder (PTLD) is a polyclonal (benign) or clonal (malignant) proliferation of lymphoid cells that develops as a consequence of immunosuppression in a recipient of a solid organ or bone marrow allograft. PTLDs comprise a spectrum ranging from early, Epstein-Barr virus (EBV)-driven polyclonal lymphoid proliferations to EBV-positive or EBV- negative lymphomas of predominantly B-cell or less often T-cell type. http://purl.obolibrary.org/obo/NCIT_C4727
post-traumatic stress disorder DOID:2055 An anxiety disorder which results from a traumatic experience that results in psychological trauma. http://purl.obolibrary.org/obo/DOID_2055
postinfectious encephalitis DOID:10993 An encephalitis that is characterized by the immune system mistakenly attacking healthy cells in the brain instead of attacking only the cells causing the infection, often occuring two to three weeks after the initial infection. http://purl.obolibrary.org/obo/DOID_10993
pre-eclampsia DOID:10591 A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy. http://purl.obolibrary.org/obo/DOID_10591 HP:0100602
Pregnancy NCIT:C25742 The state or condition of having a developing embryo or fetus in the body (uterus), after union of an ovum and spermatozoon, during the period from conception to birth. http://purl.obolibrary.org/obo/NCIT_C25742
Prenatal maternal abnormality HP:0002686 Prenatal maternal abnormality http://purl.obolibrary.org/obo/HP_0002686 HP:0002686
Preterm Birth NCIT:C92861 Birth when a fetus is less than 37 weeks and 0 days gestational age. http://purl.obolibrary.org/obo/NCIT_C92861
Previous NCIT:C25627 Occurring prior to something else. http://purl.obolibrary.org/obo/NCIT_C25627
primary biliary cholangitis DOID:12236 A liver cirrhosis characterized by chronic and slow progressive destruction of intrahepatic bile ducts. http://purl.obolibrary.org/obo/DOID_12236 HP:0002613
primary immunodeficiency disease DOID:612 An immune system disease that results when one or more essential parts of the immune system is missing or not working properly at birth due to a genetic mutation. http://purl.obolibrary.org/obo/DOID_612 HP:0002721
primary sclerosing cholangitis DOID:0060643 A sclerosing cholangitis characterized by fibroobliterative inflammation of the biliary tract, leading to cirrhosis and portal hypertension. http://purl.obolibrary.org/obo/DOID_0060643
Primary Sjogren Syndrome NCIT:C116985 Sjogren syndrome without a concomitant systemic autoimmune disorder. http://purl.obolibrary.org/obo/NCIT_C116985
proctitis DOID:3127 A rectal disease that involves inflammation of the rectal mucosa, which results from infection, inflammatory bowel disease, or radiation. Sexually transmitted pathogens (Neisseria gonorrhoeae, Chlamydia trachomatis, herpes simplex virus 1 and 2, Treponema pallidum) and enteric pathogens (Campylobacter, Shigella, Salmonella) are involved in the disease. Symptoms are rectal discomfort and bleeding. http://purl.obolibrary.org/obo/DOID_3127
psoriasis DOID:8893 A skin disease that is characterized by patches of thick red skin and silvery scales. http://purl.obolibrary.org/obo/DOID_8893 HP:0003765
psoriatic arthritis DOID:9008 An arthritis that is characterized by joint inflammation that usually occurs in combination with psoriasis. http://purl.obolibrary.org/obo/DOID_9008
Psychiatric Disorder NCIT:C2893 A disorder characterized by behavioral and/or psychological abnormalities, often accompanied by physical symptoms. The symptoms may cause clinically significant distress or impairment in social and occupational areas of functioning. Representative examples include anxiety disorders, cognitive disorders, mood disorders and schizophrenia. (UMLS CUI:C1658764) http://purl.obolibrary.org/obo/NCIT_C2893
psychotic disorder DOID:2468 A cognitive disorder that involves abnormal thinking and perceptions resulting in a disconnection with reality. http://purl.obolibrary.org/obo/DOID_2468
pulmonary hypertension DOID:6432 A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries. http://purl.obolibrary.org/obo/DOID_6432 HP:0002092
pustulosis of palm and sole DOID:4398 pustulosis of palm and sole http://purl.obolibrary.org/obo/DOID_4398 HP:0100847
Radiation Exposure NCIT:C61398 http://purl.obolibrary.org/obo/NCIT_C61398
Radiation Sickness Syndrome NCIT:C50723 The complex of symptoms characterizing the disease known as radiation injury, resulting from excessive exposure (greater than 200 rads or 2 gray) of the whole body (or large part) to ionizing radiation. The earliest of these symptoms are nausea, fatigue, vomiting, and diarrhea, which may be followed by epilation, hemorrhage, inflammation of the mouth and throat, and general loss of energy. In severe cases, where the radiation exposure has been approximately 1000 Rad (10 gray) or more, death may occur within two to four weeks. Those who survive six weeks after the receipt of a single large dose of radiation to the whole body may generally be expected to recover. (U.S. Nuclear Regulatory Commission). http://purl.obolibrary.org/obo/NCIT_C50723
Raynaud disease DOID:10300 Raynaud disease http://purl.obolibrary.org/obo/DOID_10300 HP:0030880
recent PATO:0001484 A quality of a process which occurs near to or not long before the present. http://purl.obolibrary.org/obo/PATO_0001484
Recurrent pregnancy loss C2921106 A medical condition characterized by the loss of two or more pregnancies before the fetus reaches viability. The exact timing for what constitutes "viability" may vary, but losses are often counted before 20 weeks of gestation. Recurrent pregnancy loss is a subset of miscarriage, which is more broadly defined as the loss of a pregnancy before viability. https://uts.nlm.nih.gov/uts/umls/concept/C2921106
Recurrent urinary tract infections HP:0000010 Repeated infections of the urinary tract. (UMLS CUI:C0262655) http://purl.obolibrary.org/obo/HP_0000010 HP:0000010
relapse OGMS:0000105 A disease stage which is preceded by a remission and characterized by the return of a manifestation of a disease. http://purl.obolibrary.org/obo/OGMS_0000105
relapsing polychondritis DOID:2556 A chondromalacia that is characterized by recurrent inflammation of cartilage and other tissues throughout the body. http://purl.obolibrary.org/obo/DOID_2556
renal artery obstruction DOID:2972 renal artery obstruction http://purl.obolibrary.org/obo/DOID_2972 HP:0001920
Reproductive Surgery NCIT:C157970 A surgical procedure in the field of reproductive medicine. http://purl.obolibrary.org/obo/NCIT_C157970
respiratory syncytial virus infectious disease DOID:1273 A viral infectious disease that results_in infection located_in upper respiratory tract or located_in lower respiratory tract, has_material_basis_in Human respiratory syncytial virus, which is transmitted_by droplet spread of nasal secretions from an infected person while coughing or sneezing, or transmitted_by contaminated fomites. The infection has_symptom runny nose, has_symptom fever, has_symptom cough, has_symptom wheezing, and has_symptom respiratory distress. http://purl.obolibrary.org/obo/DOID_1273
Rheumatic Disease DOID_1575 A musculoskeletal system disease that involves inflammation or pain in the muscles, joints, or fibrous tissue. http://purl.obolibrary.org/obo/DOID_1575
rheumatic heart disease DOID:0050827 A heart valve disease that is characterized by repeated inflammation with fibrinous repair caused by an autoimmune reaction to Group A beta-hemolytic streptococci (GAS) that results in valvular damage. The cardinal anatomic changes of the valve include leaflet thickening, commissural fusion, and shortening and thickening of the tendinous cords. http://purl.obolibrary.org/obo/DOID_0050827
rheumatoid arthritis DOID:7148 An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint. http://purl.obolibrary.org/obo/DOID_7148 HP:0001370
rhinitis DOID:4483 A upper respiratory infectious disease which involves irritation and inflammation of the mucous membrane of the nose due to viruses, bacteria or irritants. The inflammation results in generation of excessive amounts of mucus leading to runny nose, as well as nasal congestion and post-nasal drip. http://purl.obolibrary.org/obo/DOID_4483 HP:0012384
Rhinovirus Infection NCIT:C122572 An infectious process caused by rhinovirus. The virus usually causes upper respiratory infections, but can infect the lower tract as well. http://purl.obolibrary.org/obo/NCIT_C122572
rubella DOID:8781 A viral infectious disease that results_in infection located_in skin, has_material_basis_in Rubella virus, which is transmitted_by droplet spread of oronasal secretions from the infected person through coughing and sneezing, and transmitted_by congenital method. The infection has_symptom rash on the face which spreads to the trunk and limbs, has_symptom fever, has_symptom lymphadenopathy, has_symptom joint pains, has_symptom headache, and has_symptom conjunctivitis. http://purl.obolibrary.org/obo/DOID_8781
salmonellosis DOID:0060859 A primary bacterial infectious disease caused by the bacteria of the genus Salmonella. It has sypmtoms diarrhea, fever, vomiting, and abdominal cramps 12 to 72 hours after infection. In most cases, the illness lasts four to seven days, and most people recover without treatment. http://purl.obolibrary.org/obo/DOID_0060859
sarcoidosis DOID:11335 A hypersensitivity reaction type IV disease characterized by the growth of collections of inflammatory cells (granulomas) in multiple organs. http://purl.obolibrary.org/obo/DOID_11335
sarcoma DOID:1115 A cell type cancer that has_material_basis_in abnormally proliferating cells derives from embryonic mesoderm. http://purl.obolibrary.org/obo/DOID_1115
schistosomiasis DOID:1395 A parasitic helminthiasis infectious disease that involves infection of the intestine, urinary tract, skin, liver and spleen caused by multiple species of the trematode fluke of the genus Schistosoma. The symptoms include fever, chills, nausea, abdominal pain, diarrhea, malaise, myalgia, liver and spleen enlargement, rash and hematuria. http://purl.obolibrary.org/obo/DOID_1395
scleroderma DOID:419 A rheumatic disease that involves the abnormal growth of connective tissue, which supports the skin and internal organs. http://purl.obolibrary.org/obo/DOID_419 HP:0100324
Seasonal Allergic Rhinitis NCIT:C92188 Allergic rhinitis caused by outdoor allergens. http://purl.obolibrary.org/obo/NCIT_C92188 HP:0003193
Severe Acute Respiratory Syndrome (SARS) DOID:2945 A Coronavirus infectious disease that results_in infection located_in respiratory tract, has_material_basis_in SARS coronavirus (SARS-CoV), which is transmitted_by droplet spread of respiratory secretions, transmitted_by ingestion of contaminated food, or transmitted_by fomites. The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom dry cough, and has_symptom hypoxia http://purl.obolibrary.org/obo/DOID_2945
severe COVID-19 DOID:0081013 http://purl.obolibrary.org/obo/DOID_0081013;https://www.who.int/publications/i/item/WHO-2019-nCoV-clinical-2021-1
Sexually Transmitted Disorder NCIT:C3365 A disorder acquired through sexual contact. http://purl.obolibrary.org/obo/NCIT_C3365
Shigellosis C157978 An intestinal disease cause by Shigella bacteria. http://purl.obolibrary.org/obo/NCIT_C157978 An intestinal disease cause by Shigella bacteria.
Shoulder Dislocation NCIT:C35020 A dislocation of the shoulder joint. (UMLS CUI:C0037005) http://purl.obolibrary.org/obo/NCIT_C35020
sickle cell anemia DOID:10923 A blood protein disease that is characterized by low number of red blood cells, repeated infections, and periodic episodes of pain, resulting from atypical hemoglobin molecules called hemoglobin S, which can distort red blood cells into a sickle, or crescent, shape. https://en.wikipedia.org/wiki/Sickle_cell_disease, https://ghr.nlm.nih.gov/condition/sickle-cell-disease, https://www.nhlbi.nih.gov/health-topics/sickle-cell-disease https://www.disease-ontology.org/?id=DOID:10923
sinusitis DOID:0050127 A paranasal sinus disease involving inflammation of the paranasal sinuses resulting from bacterial, fungal, viral infection, allergic or autoimmune issues. Symptoms can include fever, weakness, fatigue, cough and congestion. There may also be mucus drainage in the back of the throat, called postnasal drip. http://purl.obolibrary.org/obo/DOID_0050127 HP:0000255
Sjogren's syndrome DOID:12894 An autoimmune disease that involves attack of immune cells which destroy the exocrine glands that produce tears and saliva. http://purl.obolibrary.org/obo/DOID_12894
Small Bowel Transplantation NCIT:C157985 Replacing diseased bowel with healthy bowel tissue. http://purl.obolibrary.org/obo/NCIT_C157985
Small for Gestational Age NCIT:C114934 Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age (UMLS CUI: C0235991). http://purl.obolibrary.org/obo/NCIT_C114934 HP:0001518
smallpox DOID:8736 A viral infectious disease that results in infection located in skin, has_material_basis_in Variola virus, which is transmitted by droplets from oral, nasal or pharyngeal mucosa, transmitted by contact with the body fluids, or transmitted by fomites. The infection results in formation of lesions, first on the face, hands and forearms and later on the trunk. http://purl.obolibrary.org/obo/DOID_8736
Solid Neoplasm NCIT:C9292 A benign or malignant neoplasm arising from tissues that do not include fluid areas. Representative examples include epithelial neoplasms (e.g. lung carcinoma, prostate carcinoma, breast carcinoma, colon carcinoma), and neoplasms arising from the soft tissues and bones (e.g. leiomyosarcoma, liposarcoma, chondrosarcoma, osteosarcoma). Neoplasms originating from the blood or bone marrow (leukemias and myeloproliferative disorders) are not considered solid tumors. http://purl.obolibrary.org/obo/NCIT_C9292
Solid Organ Transplant Recipient NCIT:C130200 An individual who is receiving a transplant of a solid organ. http://purl.obolibrary.org/obo/NCIT_C130200
specific developmental disorder DOID:0060038 A developmental disorder of mental health that categorizes specific learning disabilities and developmental disorders affecting coordination. http://purl.obolibrary.org/obo/DOID_0060038
spinal muscular atrophy DOID:12377 A motor neuron disease that is a degenerative neuromuscular disease characterized by lower motor neuron degeneration associated with progressive muscle weakness and atrophy. http://purl.obolibrary.org/obo/DOID_12377 HP:0007269
spontaneous abortion SYMP:0000199 Spontaneous abortion is a abortion characterized by the naturally occurring expulsion of a nonviable fetus. http://purl.obolibrary.org/obo/SYMP_0000199
Spontaneous Preterm Birth NCIT:C112864 Preterm birth from 20 weeks to 36 weeks, 6 days of gestation associated with one of the following: classic preterm labor or preterm premature rupture of membranes. http://purl.obolibrary.org/obo/NCIT_C112864
Staphylococcus Aureus Infection NCIT:C122576 An infectious process in which the bacteria Staphylococcus aureus is present. http://purl.obolibrary.org/obo/NCIT_C122576 HP:0020072
Stevens-Johnson syndrome DOID:0050426 A skin disease that is characterized by ulceration of less than 10 percent of the surface area of the body. The disease is often precipitated by the use of medications, such as antibiotics or antiepileptics, or onset of infection. http://purl.obolibrary.org/obo/DOID_0050426
stillbirth SYMP:0000849 Stillbirth is a reproductive system symptom characterized by the birth of a dead fetus, occurs when a fetus which has died in the uterus or during labor or delivery exits a woman's body. http://purl.obolibrary.org/obo/SYMP_0000849
Streptococcal Pharyngitis NCIT:C116003 Inflammation of the throat due to Streptococcus pyogenes. http://purl.obolibrary.org/obo/NCIT_C116003 HP:0020096
Streptococcus pneumonia DOID:0040084 A bacterial pneumonia has_material_basis_in Streptococcus pneumoniae. http://purl.obolibrary.org/obo/DOID_0040084
substance abuse DOID:302 A substance-related disorder that involves a maladaptive pattern of substance use leading to significant impairment in functioning. http://purl.obolibrary.org/obo/DOID_302
substance-related disorder DOID:303 A disease of mental health involving the abuse or dependence on a substance that is ingested in order to produce a high, alter one's senses, or otherwise affect functioning. (UMLS CUI:C0038586) http://purl.obolibrary.org/obo/DOID_303
Sweet syndrome DOID:0080746 A skin disease that is characterized by sudden onset of well defined tender plaques or nodules accompanied by fever, arthralgias, ocular inflammation, headaches and, rarely, oral or genital lesions. http://purl.obolibrary.org/obo/DOID_0080746
swine influenza DOID:0050211 An influenza that results_in infection located_in respiratory tract of pigs and humans, has_material_basis_in Influenza C virus, or has_material_basis_in Influenza A virus subtypes (H1N1, H1N2, H3N1, H3N2, and H2N3), which are transmitted_by direct contact with infected pigs. The infection in humans has_symptom fever, has_symptom lethargy, has_symptom lack of appetite, has_symptom coughing, has_symptom runny nose, has_symptom sore throat, has_symptom nausea, has_symptom vomiting, and has_symptom diarrhea. http://purl.obolibrary.org/obo/DOID_0050211
systemic lupus erythematosus DOID:9074 A lupus erythematosus that is an inflammation of connective tissue marked by skin rashes, joint pain and swelling, inflammation of the kidneys and inflammation of the tissue surrounding the heart. http://purl.obolibrary.org/obo/DOID_9074 HP:0002725
systemic scleroderma DOID:418 A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies. http://purl.obolibrary.org/obo/DOID_418 HP:0100324
tetanus DOID:11338 A primary bacterial infectious disease that results in prolonged contraction of skeletal muscle fibers, has_material_basis_in Clostridium tetani, which produces tetanospasmin, a neurotoxin, which is carried to the brain and spinal cord, where it binds irreversibly to receptors inhibiting neurotransmission. Damaged upper motor neurons cannot control reflex responses to afferent sensory stimuli. http://purl.obolibrary.org/obo/DOID_11338
tonsillitis DOID:10456 An upper respiratory tract disease which is characterized by inflammation of the tonsils resulting from bacterial (Group A streptococcus) and viral (Epstein-Barr virus, adenovirus) infections. Symptoms include a severe sore throat, painful or difficult swallowing, coughing, headache, myalgia, fever and chills. http://purl.obolibrary.org/obo/DOID_10456 HP:0011110
TORCH syndrome DOID:0080835 A syndrome that is characterized by congenital infection with toxoplasmosis, rubella, cytomegalovirus, herpes simplex, and other organisms. http://purl.obolibrary.org/obo/DOID_0080835
transverse myelitis DOID:0080743 A myelitis that is characterized by a band-like sensation across the trunk of the body, with sensory changes below. http://purl.obolibrary.org/obo/DOID_0080743
tuberculosis DOID:399 A primary bacterial infectious disease that is located_in lungs, located_in lymph nodes, located_in pericardium, located_in brain, located_in pleura or located_in gastrointestinal tract, has_material_basis_in Mycobacterium tuberculosis, which is transmitted_by droplets released into the air when an infected person coughs or sneezes. http://purl.obolibrary.org/obo/DOID_399
tularemia DOID:2123 A primary bacterial infectious disease that has_material_basis_in Francisella tularensis, which is transmitted by dog tick bite (Dermacentor variabilis), transmitted by deer flies (Chrysops sp) or transmitted by contact with infected animal tissues. http://purl.obolibrary.org/obo/DOID_2123
type 1 diabetes mellitus DOID:9744 A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production. http://purl.obolibrary.org/obo/DOID_9744 HP:0100651
type 2 diabetes mellitus DOID:9352 A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin. http://purl.obolibrary.org/obo/DOID_9352 HP:0005978
typhoid fever DOID:13258 A primary bacterial infectious disease that is a communicable systemic illness, has_material_basis_in Salmonella enterica subsp enterica serovar Typhi, which is transmitted_by ingestion of food or water contaminated with the feces of an infected person. The infection has_symptom fever, has_symptom diarrhea, has_symptom prostration, has_symptom headache, has_symptom splenomegaly, has_symptom liver enlargement, has_symptom eruption of rose-colored spots, and has_symptom leukopenia. http://purl.obolibrary.org/obo/DOID_13258
ulcerative colitis DOID:8577 A colitis that is predominantly confined to the mucosa located_in colon and includes characteristic ulcers, or open sores. http://purl.obolibrary.org/obo/DOID_8577 HP:0100279
upper respiratory tract disease DOID:974 A respiratory system disease which involves the upper respiratory tract. http://purl.obolibrary.org/obo/DOID_974
urinary tract obstruction DOID:5200 Urinary tract obstruction is a blockage that inhibits the flow of urine through its normal path (the urinary tract), including the kidneys, ureters, bladder, and urethra. Blockage can be complete or partial. Blockage can lead to kidney damage, kidney stones, and infection. http://purl.obolibrary.org/obo/DOID_5200
uveitis DOID:13141 An uveal disease is characterized by inflammation of any of the layers of the uvea of the eye, which includes the iris, ciliary body, and choroid. http://purl.obolibrary.org/obo/DOID_13141 HP:0000554
vasculitis DOID:865 A vascular disease that is characterized by inflammation of the blood vessels. http://purl.obolibrary.org/obo/DOID_865 HP:0002633
Viral Respiratory Tract Infection NCIT:C27219 A respiratory tract infection caused by a virus. Viruses represent the most common causes of upper and lower respiratory tract infections and include rhinoviruses, influenza viruses, parainfluenza viruses, and respiratory syncytial virus. http://purl.obolibrary.org/obo/NCIT_C27219
viral tropism NA The specificity of a virus for a particular host tissue, determined in part by the interaction of viral surface structures with receptors present on the surface of the host cell. https://www.dictionary.com/browse/viral-tropism
vitiligo DOID:12306 An autoimmune disease that causes depigmentation of patches of skin resulting from loss of function or death of melanoctyes. http://purl.obolibrary.org/obo/DOID_12306 HP:0001045
Water-Electrolyte Imbalance OMIT:0015710 Water-Electrolyte Imbalance http://purl.obolibrary.org/obo/OMIT_0015710
weight loss SYMP:0000178 weight loss http://purl.obolibrary.org/obo/SYMP_0000178
West Nile encephalitis DOID:2365 A viral infectious disease that results in inflammation located in brain, has_material_basis_in West Nile virus, which is transmitted_by Culex, transmitted by Aedes, and transmitted_by Anopheles species of mosquitoes. The infection has_symptom high fever, has_symptom headache, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions, has_symptom muscle weakness, has_symptom vision loss, has_symptom numbness, and has_symptom paralysis. http://purl.obolibrary.org/obo/DOID_2365
West Nile fever DOID:2366 A viral infectious disease that results_in infection, has_material_basis_in West Nile virus, which is transmitted_by Culex and transmitted_by Aedes mosquitoes. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom body ache, has_symptom nausea, has_symptom maculopapular rash and has_symptom vomiting. http://purl.obolibrary.org/obo/DOID_2366
X-linked agammaglobulinemia NCIT_C3822 An immunodeficiency state characterized (usually) by profoundly low concentrations of serum immunoglobulins of all classes, although occasionally significant amounts of one or more isotypes can be found. The fundamental defect in XLA affects early lineage B cells http://purl.obolibrary.org/obo/NCIT_C3822
yellow fever DOID:9682 A viral infectious disease that results in infection, has_material_basis_in Yellow fever virus, which is transmitted by Aedes, transmitted by Haemagogus, or transmitted by Sabethes species of mosquitoes. The infection has symptom fever, has symptom muscle pain, has symptom backache, has symptom headache, has symptom shivers, has symptom loss of appetite, has symptom jaundice, and has symptom bleeding from the mouth, nose, eyes or stomach leading to vomitus containing blood. http://purl.obolibrary.org/obo/DOID_9682
Zika fever DOID:0060478 A viral infectious disease that has_material_basis in Zika virus, which is transmitted_by Aedes aegypti mosquitoes and targets neural progenitor cells and neuronal cells in all stages of maturity and has_symptom fever, has_symptom rash, has_symptom headaches and has_symptom joint pain. http://purl.obolibrary.org/obo/DOID_0060478